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中文
这个等位基因在内源基因的第一个外显子中有109个CAG重复单位，携带有111个谷氨酰胺，同时在启动子区域包含一个可删除的neo cassette。它是一个隐性突变的等位基因，表达的突变蛋白量较低。（来源：J:52440, J:72915）
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
